The topic Anaplerosis you are seeking is a synonym, or alternative name, or is closely related to the medical condition Pyruvate Carboxylase Deficiency.

Quick Summary:

• Pyruvate Carboxylase Deficiency is an inherited and rare metabolic disorder characterized by the accumulation of excess lactic acid and other toxic compounds in blood, which affects the functioning of body organs and tissues, leading to damage of the nervous system
• Pyruvate carboxylase (PC) is an important enzyme that plays an important role in energy production by converting pyruvate to oxaloacetate, which is an important substance in gluconeogenesis (a process by which new glucose is synthesized in the body)
• Deficiency of this important enzyme causes the body to produce less energy, resulting in developmental delays, failure to thrive, and recurrent seizures
• The condition is managed through medications, supplementations, and symptomatic treatment. However, the prognosis remains guarded

There are many forms of Pyruvate Carboxylase Deficiency. The 3 common forms of PC Deficiency include:

• Infantile form or Type A: It begins in infancy and children with this form of the disorder usually live up to adulthood
• Neonatal form or Type B: It is the most severe form, which begins at birth; children usually die within the first few months of life
• Benign form or Type C: It is a mild form of PC Deficiency with normal life expectancy

Please find comprehensive information on Pyruvate Carboxylase Deficiency regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.